MANBA

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Likely inborn error of metabolism

  BIALLELIC, autosomal or pseudoautosomal

• Lysosomal storage disorder

  BIALLELIC, autosomal or pseudoautosomal

• Undiagnosed metabolic disorders

  BIALLELIC, autosomal or pseudoautosomal

• Albinism or congenital nystagmus

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

• beta-mannosidosis

  0.83

• primary biliary cholangitis

  0.51

• Hypercholesterolemia

  0.32

• ventricular septal defect

  0.31

• obesity disorder

  0.31

• biliary liver cirrhosis

  0.29

• systemic lupus erythematosus

  0.29

• allergic disease

  0.29

• Hearing impairment

  0.29

• skin disorder

  0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)